The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic
Abstract
Blue-cone monochromacy (BCM) is an X-linked condition in which long- (L−) and middle- (M−) wavelength-sensitive cone function is absent. Due to the X-linked nature of the condition, female carriers are spared from a full manifestation of the associated defects but can show visual symptoms, including abnormal cone electroretinograms. Here we imaged the cone mosaic in four females carrying an L/M array with deletion of the locus control region, resulting in an absence of L/M opsin gene expression (effectively acting as a cone opsin knockout). On average, they had cone mosaics with reduced density and disrupted organization compared to normal trichromats. This suggests that the absence of opsin in a subset of cones results in their early degeneration, with X-inactivation the likely mechanism underlying phenotypic variability in BCM carriers.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The most common such mutation is the replacement of the cysteine residue at position 203 with the amino acid arginine.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2010
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Human photoreceptor topography
Curcio, C. A., Sloan, K. R., Kalina, R. E., & Hendrickson, A. E. (1990) · The Journal of Comparative Neurology · doi:10.1002/cne.902920402 · Cited by 2,894
Standard for clinical electroretinography
Marmor, M. F., Arden, G. B., NILSSON, S. E. G., & Zrenner, E. (1989) · Documenta Ophthalmologica · doi:10.1007/bf00154486 · Cited by 807
Distribution of Cones in Human and Monkey Retina: Individual Variability and Radial Asymmetry
Curcio, C. A., Sloan, K. R., Packer, O., Hendrickson, A. E., & Kalina, R. E. (1987) · Science · doi:10.1126/science.3576186 · Cited by 585
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
Humphries, M. M., Rancourt, D., Farrar, G. J., Kenna, P., Hazel, M., Bush, R. A., Sieving, P. A., Sheils, D. M., Creighton, P., Erven, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0297-216 · Cited by 529
Standard for clinical electroretinography (2004 update)
Marmor, M. F., Holder, G. E., Seeliger, M. W., & Yamamoto, S. (2004) · Documenta Ophthalmologica · doi:10.1023/b:doop.0000036793.44912.45 · Cited by 505
Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
Sharp, A., Robinson, D., & Jacobs, P. (2000) · Human Genetics · doi:10.1007/s004390000382 · Cited by 404
Rodieck, R. W. (1991) · Visual Neuroscience · doi:10.1017/s095252380001049x · Cited by 262
The relationship between visual resolution and cone spacing in the human fovea
Rossi, E. A., & Roorda, A. (2010) · Nature Neuroscience · doi:10.1038/nn.2465 · Cited by 255
Self-citationMolecular genetics of human blue cone monochromacy
Nathans, J., Davenport, C. M., Maumenee, I. H., Lewis, R. A., Hejtmancik, J. F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., et al. (1989) · Science · doi:10.1126/science.2788922 · Cited by 255
Improvement in retinal image quality with dynamic correction of the eye’s aberrations
Hofer, H. J., Chen, L., Yoon, G., Singer, B., Yamauchi, Y., & Williams, D. R. (2001) · Optics Express · doi:10.1364/oe.8.000631 · Cited by 246
Self-citation
Cited by
The genetics of normal and defective color vision
Neitz, J., & Neitz, M. (2011) · Vision Research · doi:10.1016/j.visres.2010.12.002 · Cited by 377
Self-citation
Metadata
- Authors
- Carroll, J., Rossi, E. A., Porter, J., Neitz, J., Roorda, A., Williams, D. R., & Neitz, M.
- Venue
- Vision Research
- Publisher
- Elsevier BV
- Published
- 2010-09
- Volume
- 50
- Issue
- 19
- Pages
- 1989-1999
- ISSN
- 0042-6989
- PMC
- PMC3005209
- Cited by
- 49
- References
- 49
- Language
- en
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 1086 d)
- Funders
- National Eye Institute (F32-EY014749, R01-EY017607, R01-EY004367, R01-EY014375, R01-EY009620, R01-EY009303)
- Medical College of Wisconsin & University of Rochester
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic. https://app.cochat.ai/papers/10.1016/j.visres.2010.07.009
- The paper
- Carroll, J., Rossi, E. A., Porter, J., Neitz, J., Roorda, A., Williams, D. R., & Neitz, M. (2010). Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic. Vision Research. https://doi.org/10.1016/j.visres.2010.07.009
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
